Journal
HORMONE RESEARCH IN PAEDIATRICS
Volume 74, Issue 1, Pages 67-71Publisher
KARGER
DOI: 10.1159/000313372
Keywords
5 alpha-reductase deficiency; Testosterone/dihydrotestosterone ratio; 46,XY DSD; SRD5A1 gene mutation; SRD5A2 gene mutation; Ambiguous genitalia
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Funding
- German network 'Disorders of Sex Development' (German Ministry for Research and Education) [01GM0629]
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Background/Aims: Steroid 5 alpha-reductase deficiency (MIM*607306) caused by mutations in the SRD5A2 gene is characterized by a predominantly female phenotype at birth and significant virilization at puberty. The undermasculinization at birth results from low dihydrotestosterone (DHT) levels during fetal development as the type 2 isoenzyme activity is reduced. In puberty, when the type 1 isoenzyme activity increases, significant virilization occurs. Most 46,XY individuals with 5 alpha-reductase 2 deficiency develop a male gender identity. Case Report and Results: We present a case with a predominantly female phenotype and ambiguous external genitalia but a normal 46, XY karyotype. Plasma steroid analysis after beta-hCG stimulation at 8 days of age revealed a steroid profile estimated as normal with a testosterone (T)/DHT ratio of 9.5 initially misleading to the exclusion of 5 alpha-reductase deficiency. However, mutation analysis of the SRD5A2 gene revealed a homozygote point mutation (Leu55Gln) confirming the diagnosis of 5 alpha-reductase deficiency. A male phenotype was successfully achieved by hormone treatment with T and DHT after diagnosing 5 alpha-reductase deficiency and a masculinization operation. As a side effect skeletal age accelerated temporarily. Conclusion: In individuals with predominantly female phenotype and suspected 5 alpha-reductase deficiency, a T/DHT ratio during the neonatal period >8.5 might point to 5 alpha-reductase deficiency. After confirmation of the diagnosis by molecular analysis of the SRD5A2 gene, a satisfactory change to a male phenotype can be achieved by hormone treatment preceding surgery. Copyright (C) 2010 S. Karger AG, Basel
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